Sabati Arash A, Wong Pierre C, Randolph Linda, Pruetz Jay D
Divisions of Cardiology, Children's Hospital Los Angeles, Los Angeles, Calif, USA; Department of Pediatrics, Keck School of Medicine, University of Southern California, Los Angeles, Calif, USA.
Congenit Heart Dis. 2014 May-Jun;9(3):E98-E104. doi: 10.1111/chd.12089. Epub 2013 May 22.
Absence of the aortic valve is a rare congenital heart defect that is detectable in the prenatal period. In this condition, functional aortic valve leaflets are absent; in their place are rudimentary, immobile noncoapting plate-like structures at the level of the annulus resulting in severe aortic regurgitation. We report the fetal diagnosis and subsequent postnatal course of an infant with the novel association of absent aortic valve, double outlet right ventricle, and aortopulmonary window. This unique combination of defects resulted in an unusual pattern of circular shunting that produced evidence of fetal heart failure. Shortly after birth, the abnormal physiology led to compromised systemic perfusion, intestinal perforation and subsequent rapid demise of the patient. Abrupt postnatal deterioration typifies the vast majority of the absent aortic valve cases found in the literature. Our patient is unique in that it is the first female reported with absent aortic valve and the first reported with an aortopulmonary window. This report demonstrates that absent aortic valve is a condition that can be diagnosed prenatally by fetal echocardiogram; the highly abnormal physiology places these patients at risk for fetal heart failure. Given the potential for clinical instability and rapid deterioration after birth, such patients should undergo rapid postnatal assessment and immediate surgical intervention when deemed appropriate.
主动脉瓣缺如是一种罕见的先天性心脏缺陷，可在产前检测到。在这种情况下，功能性主动脉瓣叶缺失；在瓣环水平取而代之的是发育不全、固定不动且不能对合的板状结构，导致严重的主动脉反流。我们报告了一名婴儿的胎儿诊断及出生后的后续病程，该婴儿患有主动脉瓣缺如、右心室双出口和主肺动脉窗这一罕见的联合病变。这种独特的缺陷组合导致了一种异常的环状分流模式，出现了胎儿心力衰竭的迹象。出生后不久，异常的生理状况导致全身灌注受损、肠穿孔，随后患者迅速死亡。出生后病情突然恶化是文献中发现的绝大多数主动脉瓣缺如病例的典型特征。我们的患者很独特，因为她是首例报道的患有主动脉瓣缺如的女性，也是首例报道的患有主肺动脉窗的患者。本报告表明，主动脉瓣缺如是一种可通过胎儿超声心动图在产前诊断的疾病；高度异常的生理状况使这些患者面临胎儿心力衰竭的风险。鉴于出生后存在临床不稳定和迅速恶化的可能性，此类患者应在出生后迅速进行评估，并在认为适当时立即进行手术干预。
